Bibliometric Analysis of Global Research on Cafe-Au-Lait Macules from 2000 to 2025: Development, Collaboration...

Cafe-au-lait macules (CALMs) are one of the earliest and most common cutaneous manifestations of neurofibromatosis type 1 (NF1) and serve as critical diagnostic criteria. Over the past two decades, research related to CALMs and NF1 has expanded significantly, driven by advances in molecular genetics, precision medicine, and clinical dermatology. However, no bibliometric study has systematically analyzed the global research landscape and evolution in this area.

Publications related to CALMs were retrieved from the Web of Science Core Collection up to May 16, 2025. A total of 850 English-language articles and reviews were selected following the screening process. CiteSpace was used for bibliometric analysis. Research trends were assessed through co-authorship, co-citation, keyword co-occurrence, citation bursts, and journal impact evaluations.

The field has experienced a transition from early phenotypic descriptions to mechanistic insights and translational research. The United States and China led global research output, while emerging countries, such as Turkey and Iran, showed increasing contributions. Key institutions included the University of Alabama at Birmingham and Shanghai Jiao Tong University. Influential authors such as Eric Legius and Ludwine Messiaen formed intergenerational academic networks. Leading journals including PNAS and Genetics in Medicine, played pivotal roles in disseminating high-impact findings. Five major thematic clusters were identified, encompassing genotype-phenotype correlations, signalling pathways, cancer susceptibility, endocrine dysregulation, and tumour mutation burden. The emergence of keywords such as "genetic testing" and "laser treatment" underscores the growing emphasis on clinical translation and precision medicine.

CALM-related research has undergone significant growth over the past two decades, forming a diversified and multilayered academic ecosystem. Future studies should strengthen interdisciplinary and cross-regional collaboration, focus on multi-omics integration, and bridge the gap between fundamental discoveries and clinical applications.